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ORPHA:199241

Pulmonary capillary hemangiomatosis

medium confidenceDisorder

Publications

798

90th percentile

Trials

1

Interventional, condition-specific

Researchers

1,300

Distinct authors in sample

Gene link

EIF2AK4

Strong

Readiness

3/6

Stages with a signal

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — EIF2AK4

  2. LiteraturePresent

    798 matched papers (490 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (EIF2AK4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

798

798 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

798 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

490 in the last 10 years · medium confidence · 90th percentile (publications denominator)

Phrase hits: 798 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,300

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chen J4 papers · 2026

    Heart and Lung Transplantation Research Laboratory, North Sichuan Medical College, Nanchong 637000, China.

    Papers in Europe PMC
  2. 02
    Dorfmüller P4 papers · 2026

    Centre Chirurgical Marie Lannelongue, Service d'Anatomie Pathologique, Le Plessis Robinson, France.

    Papers in Europe PMC
  3. 03
    Matsubara H4 papers · 2024

    Department of Clinical Science, National Hospital Organization Okayama Medical Center, Okayama, Japan; Department of Cardiology, National Hospital Organization Okayama Medical Center, Okayama, Japan. Electronic address: matsubara.hiromi@gmail.com.

    Papers in Europe PMC
  4. 04
    Sato T4 papers · 2023

    Department of Cardiology, Tachikawa General Hospital, Nagaoka, Niigata, Japan.

    Papers in Europe PMC
  5. 05
    Tatsumi K4 papers · 2021

    Department of Respirology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana Chuou-ku, Chiba, 260-8670, Japan.

    Papers in Europe PMC
  6. 06
    Watanabe T4 papers · 2023

    First Department of Medicine, Hokkaido University Hospital, Kita-14, Nishi-5, Kita-ku, Sapporo, 060-8648, Japan.

    Papers in Europe PMC
  7. 07
    Bogaard HJ3 papers · 2026

    Department of Pulmonary Medicine Amsterdam UMC Amsterdam Netherlands.

    Papers in Europe PMC
  8. 08
    Channick RN3 papers · 2026

    Division of Pulmonary and Critical Care, Massachusetts General Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  9. 09
    Chin KM3 papers · 2026

    UT Southwestern Medical Center, Professional Office Building II Dallas 5939 Harry Hines Blvd, Ste HQ 1.200, Dallas, TX, 75390, USA. kelly.chin@utsouthwestern.edu.

    Papers in Europe PMC
  10. 10
    Elliott CG3 papers · 2021

    Pulmonary Division, University of Utah, 24 North 1900 East Wintrobe Building, Room 701, Salt Lake City, UT 84132, USA; Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA. Electronic address: greg.elliott@imail.org.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Pulmonary capillary hemangiomatosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemangiomatosis, familial pulmonary capillary

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Pulmonary capillary hemangiomatosis" OR "Hemangiomatosis, familial pulmonary capillary" OR "EIF2AK4"

Recall-expansion terms: EIF2AK4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "Pulmonary capillary hemangiomatosis" also appears on ORPHA:31837

Ingested 2026-07-27T09:08:38.982Z